Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

Epilepsy is heritable, yet few causative gene mutations have been identified, and thus far no human epilepsy gene mutations have been found to produce seizures in invertebrates. Here we show that mutations in prickle genes are associated with seizures in humans, mice, and flies. We identified human...

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Detalhes bibliográficos
Main Authors: Tao, Hirotaka, Manak, J. Robert, Sowers, Levi, Mei, Xue, Kiyonari, Hiroshi, Abe, Takaya, Dahdaleh, Nader S., Yang, Tian, Wu, Shu, Chen, Shan, Fox, Mark H., Gurnett, Christina, Montine, Thomas, Bird, Thomas, Shaffer, Lisa G., Rosenfeld, Jill A., McConnell, Juliann, Madan-Khetarpal, Suneeta, Berry-Kravis, Elizabeth, Griesbach, Hilary, Saneto, Russell P., Scott, Matthew P., Antic, Dragana, Reed, Jordan, Boland, Riley, Ehaideb, Salleh N., El-Shanti, Hatem, Mahajan, Vinit B., Ferguson, Polly J., Axelrod, Jeffrey D., Lehesjoki, Anna-Elina, Fritzsch, Bernd, Slusarski, Diane C., Wemmie, John, Ueno, Naoto, Bassuk, Alexander G.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3035715/
https://ncbi.nlm.nih.gov/pubmed/21276947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.12.012
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